Transcript #00002660

Transcript name transcript variant 3
Gene name APC (adenomatous polyposis coli)
Chromosome 5
Transcript - NCBI ID NM_000038.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000029.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5161 entries on 52 pages. Showing entries 1 - 100.
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Affects function     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

CodonNr     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Method     
?/. _1 Promotor c.-30461T>G VUS r.(?) p.? - - 0.000 substitution screen APC gene (index patient)
?/? _1 Promotor c.-30361_-30360insG VUS r.(?) p.? - - - - screen APC gene (index patient)
?/? _1 Promotor c.-30359C>G VUS r.(?) p.? - - - substitution screen APC gene (index patient)
?/? _1 Promotor c.-30340C>T VUS r.(?) p.? - - - substitution screen APC gene (index patient)
+/. P_1_3i promoter 1B c.-12246_-18-7285delinsTGCTCTATGACCAATT pathogenic r.(?) p.? - deletion, large - deletion, large unknown
+/. _1 - c.-190G>A pathogenic r.(?) p.(=) - - 0.000 substitution screen APC gene (index patient)
+/+ P_1_4i 1i+promoter c.(?_-85)_(135+1_136-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_4i 1i+promoter c.(?_-85)_(135+1_136-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_4i 1i+promoter c.(?_-85)_(135+1_136-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_8i 1_5+promoter c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_8i 1_5+promotor c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_10i 1_7i+promoter c.(?_-85)_(834+1_835-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_10i 1_7i+promoter c.(?_-85)_(834+1_835-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_13i 1_10i+promoter c.(?_-85)_(1408+1_1409-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_13i 1_10i+promoter c.(?_-85)_(1408+1_1409-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_13i 1_10i+promoter c.(?_-85)_(1408+1_1409-1)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/. P_1_18_ _15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 - deletion, large 0.000 deletion, large screen APC gene (index patient)
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large test known APC variant (relative)
+/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ P_1_18 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large test known APC variant (relative)
+/+ 3i_10i 1_7i c.(-19+1_-18-1)_(834+1_835-1)del pathogenic r.? p.0? del deletion, large - deletion, large unknown
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient)
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